NAM
MCID: STC018
MIFTS: 25

Stac3 Disorder (NAM)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Stac3 Disorder

MalaCards integrated aliases for Stac3 Disorder:

Name: Stac3 Disorder 24 52 25
Bailey-Bloch Congenital Myopathy 52 29 6
Native American Myopathy 24 52 25
Myopathy, Congenital, with Myopathic Facies, Scoliosis, and Malignant Hyperthermia 25
Congenital Myopathy with Myopathic Facies, Scoliosis, and Malignant Hyperthermia 52
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 52
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 52
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 52
Myopathy, Congenital, Bailey-Bloch 25
Nam 25

Classifications:



Summaries for Stac3 Disorder

Genetics Home Reference : 25 STAC3 disorder (formerly known as Native American myopathy) is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with STAC3 disorder have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at birth. Muscle weakness underlies many of the characteristic features of STAC3 disorder. Affected individuals may have feeding and swallowing difficulties in infancy. They usually have delayed development of motor skills such as sitting, crawling, standing, and walking. Many have facial features described as "myopathic facies", which include drooping eyelids (ptosis), sunken cheeks, and a mouth often held in an open position and with the corners turned downward. Other distinctive facial features in people with STAC3 disorder can include a small lower jaw (micrognathia), an opening in the roof of the mouth (cleft palate), low-set ears that slant backward, eye openings that are shorter than average or that point downward (short or downslanting palpebral fissures), or an increased distance between the inner corners of the eyes (ocular telecanthus). Individuals with STAC3 disorder may also be born with joint deformities that restrict movement (contractures) or develop an abnormal side-to-side or back-to-front curvature of the spine (scoliosis or kyphosis, often called kyphoscoliosis when they occur together). Affected individuals tend to be shorter than their peers and others in their family. People with STAC3 disorder also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic drugs, which are used to block the sensation of pain, either given alone or in combination with a particular type of muscle relaxant. If given these drugs, people at risk of malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever (hyperthermia), increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless the drugs are stopped and the symptoms are treated promptly.

MalaCards based summary : Stac3 Disorder, also known as bailey-bloch congenital myopathy, is related to necrotizing autoimmune myopathy and malignant hyperthermia. An important gene associated with Stac3 Disorder is STAC3 (SH3 And Cysteine Rich Domain 3). Affiliated tissues include skeletal muscle, eye and heart.

NIH Rare Diseases : 52 STAC3 Disorder is a genetic condition that affects the muscles and skeleton. The main features are muscle weakness present at birth, club foot, fixed joints (joint contractures ), and curvature of the spine. The symptoms of this condition vary. The most severe complications can include feeding and breathing difficulties. Many people with this condition are at risk to have complications under general anesthesia (malignant hyperthermia ). Muscle weakness may get slowly worse over time or stay the same. Most people with STAC3 disorders are shorter than average and have normal intelligence. This condition is caused by genetic alterations in the STAC3 gene and is inherited in an autosomal recessive pattern. STAC3 disorder is diagnosed based on the symptoms and confirmed by genetic testing . Treatment is based on managing the symptoms.

Wikipedia : 74 STAC3 is a protein that has been shown to be associated with the a special form of myopathy known as... more...

GeneReviews: NBK542808

Related Diseases for Stac3 Disorder

Diseases related to Stac3 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 necrotizing autoimmune myopathy 12.1
2 malignant hyperthermia 11.6
3 avian influenza 10.4
4 malaria 10.3
5 influenza 10.3
6 cleft lip 10.3
7 cleft lip/palate 10.3
8 hepatocellular carcinoma 10.3
9 japanese encephalitis 10.3
10 trachoma 10.3
11 diarrhea 10.2
12 mouth disease 10.2
13 encephalitis 10.2
14 typhoid fever 10.2
15 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
16 yemenite deaf-blind hypopigmentation syndrome 10.1
17 hand, foot and mouth disease 10.1
18 tetanus 10.1
19 diphtheria 10.1
20 iron metabolism disease 10.1
21 poliomyelitis 10.1
22 cleft palate, isolated 10.1
23 myopathy, congenital 10.1
24 myopathy, congenital, bailey-bloch 10.1
25 scoliosis 10.1
26 ptosis 10.1
27 myopathy 10.1
28 malignant hyperthermia susceptibility 10.1
29 alcohol dependence 10.1
30 gastric cancer 10.1
31 dengue virus 10.1
32 exanthem 10.1
33 dengue disease 10.1
34 ancylostomiasis 10.1
35 plasmodium falciparum malaria 10.1
36 hepatitis b 10.1
37 leptospirosis 10.1
38 pulmonary tuberculosis 10.1
39 multidrug-resistant tuberculosis 10.1
40 measles 10.1
41 metagonimiasis 10.1
42 meningitis 10.1
43 head injury 10.1
44 papillomatosis, confluent and reticulated 10.0
45 schizophrenia 10.0
46 leprosy 3 10.0
47 cervical cancer 10.0
48 body mass index quantitative trait locus 1 10.0
49 deficiency anemia 10.0
50 paragonimiasis 10.0

Graphical network of the top 20 diseases related to Stac3 Disorder:



Diseases related to Stac3 Disorder

Symptoms & Phenotypes for Stac3 Disorder

Drugs & Therapeutics for Stac3 Disorder

Search Clinical Trials , NIH Clinical Center for Stac3 Disorder

Genetic Tests for Stac3 Disorder

Genetic tests related to Stac3 Disorder:

# Genetic test Affiliating Genes
1 Bailey-Bloch Congenital Myopathy 29 STAC3

Anatomical Context for Stac3 Disorder

MalaCards organs/tissues related to Stac3 Disorder:

40
Skeletal Muscle, Eye, Heart, Testes

Publications for Stac3 Disorder

Articles related to Stac3 Disorder:

(show all 26)
# Title Authors PMID Year
1
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. 24 61
28411587 2017
2
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. 61 24
28777491 2017
3
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 61 24
23736855 2013
4
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 24 61
18843099 2008
5
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. 24 61
18553514 2008
6
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. 24
30168660 2018
7
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. 24
30065953 2018
8
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. 24
29560417 2018
9
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. 24
28681861 2017
10
De novo mutations in PLXND1 and REV3L cause Möbius syndrome. 24
26068067 2015
11
Consensus statement on standard of care for congenital myopathies. 24
22431881 2012
12
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 24
21514828 2011
13
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 24
18765655 2008
14
Neurological disorders. The mystery of the missing smile. 24
17495152 2007
15
Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome? 24
3245876 1988
16
Malignant hyperthermia in a three-month-old American Indian infant. 24
3631569 1987
17
The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. 24
7131178 1982
18
Anesthetic-induced malignant hyperpyrexia in children. 24
4149045 1973
19
Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling. 61
32492370 2020
20
Skeletal muscle CaV1.1 channelopathies. 61
32222817 2020
21
STAC3 Disorder 61
31219695 2019
22
Malignant Hyperthermia. 61
31040503 2019
23
Structural insights into binding of STAC proteins to voltage-gated calcium channels. 61
29078335 2017
24
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. 61
28003463 2017
25
STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. 61
28112192 2017
26
Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation. 61
27621462 2016

Variations for Stac3 Disorder

ClinVar genetic disease variations for Stac3 Disorder:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAC3 NM_145064.3(STAC3):c.761_762CT[1] (p.Leu255fs)short repeat Pathogenic 559850 rs773050511 12:57638360-57638363 12:57244577-57244580
2 STAC3 NM_145064.3(STAC3):c.997-1G>TSNV Pathogenic 691283 12:57637694-57637694 12:57243911-57243911
3 STAC3 NG_033835.1:g.12283G>TSNV Pathogenic 916536
4 STAC3 NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)SNV Pathogenic 88744 rs140291094 12:57638105-57638105 12:57244322-57244322
5 STAC3 NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)SNV Conflicting interpretations of pathogenicity 425007 rs371720347 12:57638005-57638005 12:57244222-57244222
6 STAC3 NM_145064.3(STAC3):c.432+4A>TSNV Uncertain significance 425008 rs751033943 12:57642485-57642485 12:57248702-57248702
7 STAC3 NM_145064.3(STAC3):c.487G>A (p.Ala163Thr)SNV Uncertain significance 465660 rs1555194487 12:57641927-57641927 12:57248144-57248144
8 STAC3 NM_145064.3(STAC3):c.157G>A (p.Val53Met)SNV Uncertain significance 465658 rs141938531 12:57643001-57643001 12:57249218-57249218
9 STAC3 NM_145064.3(STAC3):c.932A>G (p.His311Arg)SNV Uncertain significance 465661 rs1555193817 12:57637935-57637935 12:57244152-57244152
10 STAC3 NM_145064.3(STAC3):c.383_399del (p.His128fs)deletion Uncertain significance 465659 rs1555194630 12:57642522-57642538 12:57248739-57248755
11 STAC3 NM_145064.3(STAC3):c.560T>A (p.Met187Lys)SNV Uncertain significance 522766 rs1461373398 12:57640630-57640630 12:57246847-57246847
12 STAC3 NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)SNV Uncertain significance 577652 rs1202215410 12:57638387-57638387 12:57244604-57244604
13 STAC3 NM_145064.3(STAC3):c.299C>T (p.Pro100Leu)SNV Uncertain significance 582541 rs1176692820 12:57642859-57642859 12:57249076-57249076
14 STAC3 NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu)SNV Uncertain significance 568460 rs762866281 12:57637638-57637638 12:57243855-57243855
15 STAC3 NM_145064.3(STAC3):c.195_200GGAAGA[4] (p.Glu75_Glu76dup)short repeat Uncertain significance 565591 rs747619441 12:57642945-57642946 12:57249162-57249163
16 STAC3 NM_145064.3(STAC3):c.806C>T (p.Pro269Leu)SNV Uncertain significance 578220 rs367590066 12:57638320-57638320 12:57244537-57244537
17 STAC3 NM_145064.3(STAC3):c.347T>G (p.Phe116Cys)SNV Uncertain significance 568539 rs1565783065 12:57642574-57642574 12:57248791-57248791
18 STAC3 NM_145064.3(STAC3):c.941C>T (p.Thr314Met)SNV Uncertain significance 661534 12:57637926-57637926 12:57244143-57244143
19 STAC3 NM_145064.3(STAC3):c.895A>G (p.Asn299Asp)SNV Uncertain significance 647235 12:57637972-57637972 12:57244189-57244189
20 STAC3 NM_145064.3(STAC3):c.574C>T (p.Arg192Trp)SNV Uncertain significance 646124 12:57640616-57640616 12:57246833-57246833
21 STAC3 NM_145064.3(STAC3):c.473G>A (p.Ser158Asn)SNV Uncertain significance 646361 12:57641941-57641941 12:57248158-57248158
22 STAC3 NM_145064.3(STAC3):c.280G>A (p.Asp94Asn)SNV Uncertain significance 649373 12:57642878-57642878 12:57249095-57249095
23 STAC3 NM_145064.3(STAC3):c.170G>T (p.Gly57Val)SNV Uncertain significance 644215 12:57642988-57642988 12:57249205-57249205
24 STAC3 NM_145064.3(STAC3):c.26C>A (p.Ser9Tyr)SNV Uncertain significance 644689 12:57643394-57643394 12:57249611-57249611
25 STAC3 NM_145064.3(STAC3):c.997-1G>CSNV Uncertain significance 639920 12:57637694-57637694 12:57243911-57243911
26 STAC3 NC_000012.12:g.(?_57243443)_(57249646_?)dupduplication Uncertain significance 832934 12:57637226-57643429
27 STAC3 NM_145064.3(STAC3):c.1022C>T (p.Ala341Val)SNV Uncertain significance 851418 12:57637668-57637668 12:57243885-57243885
28 STAC3 NM_145064.3(STAC3):c.978C>G (p.Ile326Met)SNV Uncertain significance 851882 12:57637889-57637889 12:57244106-57244106
29 STAC3 NM_145064.3(STAC3):c.963C>T (p.Arg321=)SNV Uncertain significance 838844 12:57637904-57637904 12:57244121-57244121
30 STAC3 NM_145064.3(STAC3):c.935G>A (p.Arg312His)SNV Uncertain significance 846331 12:57637932-57637932 12:57244149-57244149
31 STAC3 NM_145064.3(STAC3):c.636G>C (p.Glu212Asp)SNV Uncertain significance 849720 12:57638962-57638962 12:57245179-57245179
32 STAC3 NM_145064.3(STAC3):c.583G>A (p.Gly195Arg)SNV Uncertain significance 853073 12:57640607-57640607 12:57246824-57246824
33 STAC3 NM_145064.3(STAC3):c.554T>C (p.Val185Ala)SNV Uncertain significance 838703 12:57640636-57640636 12:57246853-57246853
34 STAC3 NM_145064.3(STAC3):c.517C>T (p.Arg173Cys)SNV Uncertain significance 839245 12:57640673-57640673 12:57246890-57246890
35 STAC3 NM_145064.3(STAC3):c.440G>A (p.Gly147Asp)SNV Uncertain significance 841235 12:57641974-57641974 12:57248191-57248191
36 STAC3 NM_145064.3(STAC3):c.424G>A (p.Gly142Ser)SNV Uncertain significance 835014 12:57642497-57642497 12:57248714-57248714
37 STAC3 NM_145064.3(STAC3):c.404T>C (p.Val135Ala)SNV Uncertain significance 858000 12:57642517-57642517 12:57248734-57248734
38 STAC3 NM_145064.3(STAC3):c.187A>G (p.Ile63Val)SNV Uncertain significance 837180 12:57642971-57642971 12:57249188-57249188
39 STAC3 NM_145064.3(STAC3):c.170G>C (p.Gly57Ala)SNV Uncertain significance 839242 12:57642988-57642988 12:57249205-57249205
40 STAC3 NM_145064.3(STAC3):c.34C>G (p.Pro12Ala)SNV Uncertain significance 860705 12:57643386-57643386 12:57249603-57249603
41 STAC3 NM_145064.3(STAC3):c.671-10C>GSNV Uncertain significance 854372 12:57638758-57638758 12:57244975-57244975
42 STAC3 NM_145064.3(STAC3):c.259G>A (p.Asp87Asn)SNV Uncertain significance 534096 rs776406787 12:57642899-57642899 12:57249116-57249116
43 STAC3 NM_145064.3(STAC3):c.251T>G (p.Leu84Arg)SNV Uncertain significance 534099 rs201754072 12:57642907-57642907 12:57249124-57249124
44 STAC3 NM_145064.3(STAC3):c.195_200GGAAGA[2] (p.Glu75_Glu76del)short repeat Uncertain significance 534098 rs747619441 12:57642946-57642951 12:57249163-57249168
45 STAC3 NM_145064.3(STAC3):c.987G>T (p.Lys329Asn)SNV Uncertain significance 534097 rs1445308443 12:57637880-57637880 12:57244097-57244097
46 STAC3 NM_145064.3(STAC3):c.221A>G (p.Glu74Gly)SNV Uncertain significance 534100 rs199716296 12:57642937-57642937 12:57249154-57249154
47 STAC3 NM_145064.3(STAC3):c.870G>A (p.Gly290=)SNV Likely benign 705061 12:57637997-57637997 12:57244214-57244214
48 STAC3 NM_145064.3(STAC3):c.513C>G (p.Ala171=)SNV Likely benign 703916 12:57640677-57640677 12:57246894-57246894
49 STAC3 NM_145064.3(STAC3):c.465A>G (p.Pro155=)SNV Likely benign 704229 12:57641949-57641949 12:57248166-57248166
50 STAC3 NM_145064.3(STAC3):c.335-10C>TSNV Likely benign 706275 12:57642596-57642596 12:57248813-57248813

Expression for Stac3 Disorder

Search GEO for disease gene expression data for Stac3 Disorder.

Pathways for Stac3 Disorder

GO Terms for Stac3 Disorder

Sources for Stac3 Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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